Char Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Char Syndrome?
A geneticist (a doctor who treats inherited conditions) and a cardiologist (a heart doctor) usually care for people with Char syndrome. This rare condition affects the face, heart, and hands. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Char syndrome?
Char syndrome is a rare condition that affects the development of the face, heart, and limbs. It has three major features: a distinctive face, a heart defect called patent ductus arteriosus, and hand differences. Before birth, a vessel called the ductus arteriosus links two big arteries (the aorta and the pulmonary artery). This link normally closes soon after birth. In patent ductus arteriosus it stays open. Char syndrome is very rare. Only a few families with this condition have been identified worldwide.
Symptoms
Features may be mild or severe. The three main areas affected are:
- Face. Flattened cheekbones, a flat nasal bridge (the area of the nose between the eyes), a flat and broad nose tip, wide-set eyes with droopy eyelids, a short space between the nose and upper lip, a triangular-shaped mouth, and thick lips.
- Heart. Patent ductus arteriosus occurs in most babies with Char syndrome. If untreated, it causes infants to breathe rapidly, feed poorly, and gain weight slowly. In severe cases, it can lead to heart failure. People with patent ductus arteriosus also have an increased risk of infection.
- Hands. In most people with this condition, the middle section of the fifth (pinky) finger is shortened or absent. Other hand and foot differences are less common.
Causes and who gets it
Char syndrome is caused by changes in the TFAP2B gene. This gene makes a protein that helps control other genes before birth. Changes in it disrupt how the face, heart, and limbs develop.
The condition is inherited in an autosomal dominant way. This means one copy of the changed gene is enough to cause it. Some people inherit the change from one affected parent. In other cases, the change is new and there is no history of the disorder in the family.
How doctors diagnose it
Doctors take a detailed medical history and do a thorough physical exam, focusing on the eyes, ears, heart, and teeth. An echocardiogram (a test that uses sound waves to create pictures of the heart) finds patent ductus arteriosus and other heart defects. Genetic testing of the TFAP2B gene confirms the diagnosis. It also helps with family counseling. Because the condition is rare and features vary, diagnosis can be hard.
Treatment
Care needs a team of specialists, such as children's doctors, geneticists, and heart doctors. Two treatments can close the open vessel for good. One is surgical ligation (tying the vessel closed). The other is catheter-based ductal occlusion (closing it with a thin tube). Surgery on the face and skull (craniofacial surgery) can change some parts of the face.
Children need regular checkups. These include yearly vision and hearing checks, dental checkups, and head shape checks in infancy. Genetic counseling helps families learn the risk of passing the condition to future children. Early diagnosis and treatment are crucial to improve development and quality of life.
When to see a doctor
If an infant feeds poorly or gains weight slowly, contact a health care provider. Call 911 if a baby has trouble breathing, breathes very fast, has blue or gray skin, or is very sleepy and hard to wake. Untreated, patent ductus arteriosus can lead to heart failure in severe cases.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either can check your child's growth and development and coordinate care with a geneticist and a cardiologist. They can also help arrange the regular checkups your child needs.
Common questions
What causes Char syndrome?
It is caused by changes in the TFAP2B gene. This gene helps control other genes before birth. The condition is inherited in an autosomal dominant way, but some cases come from a new change in the gene.
What is patent ductus arteriosus?
Before birth, the ductus arteriosus is a blood vessel that connects two major arteries. It normally closes shortly after birth. In patent ductus arteriosus, it stays open and disrupts normal blood flow.
How rare is Char syndrome?
It is extremely rare. Only a few dozen cases have been reported worldwide. It is believed to occur in about 1 in every 100,000 to 200,000 births.
Will my child need surgery?
It depends on the heart defect. Two treatments are definitive for patent ductus arteriosus. They are surgical ligation and catheter-based ductal occlusion. The care team will discuss what your child needs.
Can Char syndrome be passed to children?
Yes. If a parent has the changed gene, there is a 50% chance of passing it to each child. Some cases come from a new mutation (a new change in the gene), with no family history. Genetic counseling can help families understand their risk.
Sources
- MedlinePlus Genetics - Char syndrome
- NIH Genetic and Rare Diseases Information Center - Char syndrome
- NCBI Bookshelf - Char Syndrome (StatPearls)
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
